DIFFUSE WHITE-MATTER DISEASE IN 3 CHILDREN - AN ENCEPHALOPATHY WITH UNIQUE FEATURES ON MAGNETIC-RESONANCE-IMAGING AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY

Amongst 21 children with unclassified white matter diseases three pati ents could be characterised by an identical clinical picture, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (M RS) findings as a probably distinct entity. Following a normal early d evelopment they later showed rapidly progressive motor symptoms (ataxi a, spasticity) leading to severe handicap within one or two years afte r onset. Later on bulbar symptoms, optic atrophy and epileptic seizure s occurred. The MRI showed a diffuse homogenous hypodensity of the whi te matter almost identical to the signal of the ventricles. MRS reveal ed a near total absence of N-acetylaspartate, choline and creatine and an increase of lactate and glucose. One girl and one boy were sibling s, indicating an autosomal recessive trait.